Cerebrotendinous xanthomatosis: recurrence of the CYP27A1 mutation p.Arg479Cys in Sardinia

Neurol Sci. 2014 Aug;35(8):1303-5. doi: 10.1007/s10072-014-1696-6. Epub 2014 Mar 2.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Amino Acid Substitution
  • Chenodeoxycholic Acid / therapeutic use
  • Cholestanetriol 26-Monooxygenase / genetics*
  • Cholestanol / metabolism
  • Consanguinity
  • Diagnosis, Differential
  • Female
  • Genotype
  • Haplotypes
  • Humans
  • Italy / epidemiology
  • Male
  • Middle Aged
  • Mutation, Missense*
  • Paraplegia / diagnosis
  • Phenotype
  • Point Mutation*
  • Xanthomatosis, Cerebrotendinous / diagnosis
  • Xanthomatosis, Cerebrotendinous / drug therapy
  • Xanthomatosis, Cerebrotendinous / ethnology
  • Xanthomatosis, Cerebrotendinous / genetics*

Substances

  • Chenodeoxycholic Acid
  • Cholestanol
  • CYP27A1 protein, human
  • Cholestanetriol 26-Monooxygenase